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Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.
Am J Hum Genet. 1998 Jun;62(6):1361-9. doi: 10.1086/301875.
Am J Hum Genet. 1998.
PMID: 9585603
Free PMC article.
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.
Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB.
Li L, et al.
Nat Genet. 1997 Jul;16(3):243-51. doi: 10.1038/ng0797-243.
Nat Genet. 1997.
PMID: 9207788
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Jagged1 mutations in patients ascertained with isolated congenital heart defects.
Krantz ID, Smith R, Colliton RP, Tinkel H, Zackai EH, Piccoli DA, Goldmuntz E, Spinner NB.
Krantz ID, et al.
Am J Med Genet. 1999 May 7;84(1):56-60.
Am J Med Genet. 1999.
PMID: 10213047
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